Canonical Allele Identifier: CA187953728

Gene: VLDLR

Linked Data

• dbSNP Id: rs537546636
• gnomAD v2: 9-2645994-T-C
• gnomAD v3: 9-2645994-T-C
• gnomAD v4: 9-2645994-T-C
• MyVariant Identifiers: chr9:g.2645994T>C (hg19) ; chr9:g.2645994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2645994T>C , CM000671.2:g.2645994T>C	GRCh38
NC_000009.11:g.2645994T>C , CM000671.1:g.2645994T>C	GRCh37
NC_000009.10:g.2635994T>C	NCBI36
NG_012741.1:g.29202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382099.3:c.1042+249T>C
ENST00000382100.8:c.1484+249T>C MANE Select	ENSP00000371532.2:n.1484+249T>C
ENST00000478776.2:n.929+249T>C
ENST00000679718.1:n.720+249T>C
ENST00000679750.1:n.900+249T>C
ENST00000679851.1:n.1668+249T>C
ENST00000680021.1:n.1684+249T>C
ENST00000680043.1:c.1036+249T>C
ENST00000680219.1:c.1051+249T>C
ENST00000680243.1:c.*1263+249T>C	ENSP00000505911.1:n.*1263+249T>C
ENST00000680296.1:c.910+249T>C
ENST00000680332.1:n.567+249T>C
ENST00000680746.1:c.1361+249T>C	ENSP00000505030.1:n.1361+249T>C
ENST00000680751.1:n.889+249T>C
ENST00000680891.1:c.*1276+249T>C	ENSP00000505167.1:n.*1276+249T>C
ENST00000680975.1:n.869+249T>C
ENST00000681087.1:n.929+249T>C
ENST00000681306.1:c.1484+249T>C	ENSP00000506072.1:n.1484+249T>C
ENST00000681618.1:c.1361+249T>C	ENSP00000505773.1:n.1361+249T>C
ENST00000681644.1:c.*1156+249T>C	ENSP00000505180.1:n.*1156+249T>C
ENST00000681806.1:c.1484+249T>C	ENSP00000505282.1:n.1484+249T>C
ENST00000681942.1:c.1032+249T>C
ENST00000382099.2:c.1484+249T>C	ENSP00000371531.2:n.1484+249T>C
ENST00000382100.7:c.1484+249T>C	ENSP00000371532.2:n.1484+249T>C
NM_001018056.1:c.1484+249T>C	NP_001018066.1:n.1484+249T>C
NM_003383.3:c.1484+249T>C	NP_003374.3:n.1484+249T>C
XM_011518029.1:c.1361+249T>C	XP_011516331.1:n.1361+249T>C
NM_001018056.2:c.1484+249T>C	NP_001018066.1:n.1484+249T>C
NM_001322225.1:c.1361+249T>C	NP_001309154.1:n.1361+249T>C
NM_001322226.1:c.1361+249T>C	NP_001309155.1:n.1361+249T>C
NM_003383.4:c.1484+249T>C	NP_003374.3:n.1484+249T>C
XR_001746373.2:n.1888+249T>C
XR_002956805.1:n.1888+249T>C
NM_003383.5:c.1484+249T>C MANE Select	NP_003374.3:n.1484+249T>C
NM_001018056.3:c.1484+249T>C	NP_001018066.1:n.1484+249T>C
NM_001322225.2:c.1361+249T>C	NP_001309154.1:n.1361+249T>C
NM_001322226.2:c.1361+249T>C	NP_001309155.1:n.1361+249T>C